Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B5
Variant:p.R171K
Back to variants list

EIF2B5

NM_003907.3:p.R171K

Associated Papers

Adult-Onset EIF2B-Pathies: A Clinical, Imaging and Genetic Profiling with Literature Review.

Thuppanattumadam Ananthasubramanian S et al.

The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2024

Adult-onset leukodystrophy with vanishing white matter: a case series of 19 patients.

Benzoni C et al.

Journal of Neurology, 2023

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."